ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826418044
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000152326
RCV000250139
RCV000541819
RCV003137656
ClinVar Variation:
165992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Ala16030Val
CA178776
NM_001256850.1:c.48089C>T